A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Bilirubin Targeting WNK1 to Alleviate NLRP3‐Mediated Neuroinflammation
Bilirubin, an endogenous metabolite with many significant physiological roles, particularly anti‐inflammatory properties, shows great promise as a treatment for inflammatory diseases.
Linfei Mao +14 more
doaj +1 more source
Review of the mechanisms of climatic elements on sleep quality [PDF]
Sleep is a basic need for human life-sustaining activities, and sleep quality is closely related to human health. With the rapid changes in the global climate, an increasing number of studies have found that climate change has an important impact on ...
WANG Jiaxin, ZHANG Xin, HU Linlin
doaj +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
Mechanisms and Risk Factors of Cognitive Impairment in COPD
Topic Importance: Cognitive impairment (CI) is an underrecognized extrapulmonary complication of COPD. Emerging evidence suggests that CI in COPD is both highly prevalent and clinically significant, with detrimental effects on disease management ...
Sanchit Panda, MD +3 more
doaj +1 more source
A 57‐Year‐Old Male With Behavioral Variant Frontotemporal Dementia and MATR3 and NOS3 Mutations
ABSTRACT This report presents a case of behavioral variant frontotemporal dementia caused by mutations in the MATR3 and NOS3 genes, aiming to analyze its clinical manifestations and genetic characteristics. For a case presenting with personality changes and gait abnormalities as the initial symptoms, this study conducted a comprehensive analysis of its
Feifei Lin, Saie Huang
wiley +1 more source
Shifting burden of nasopharyngeal carcinoma: global patterns and forecasts to 2050 from the GBD 2021
BackgroundNasopharyngeal carcinoma (NPC) exhibits pronounced geographical variation, with a high burden in specific regions. We assessed global, regional, and national trends in NPC burden from 1990 to 2021 and projected estimates to 2050.MethodsWe ...
Enhui Zhou +22 more
doaj +1 more source
Cognitive Behavioral Therapy for Youth With Childhood‐Onset Lupus: A Randomized Clinical Trial
Objective Our objective was to determine the feasibility and acceptability of the Treatment and Education Approach for Childhood‐Onset Lupus (TEACH), a six‐session cognitive behavioral intervention addressing depressive, fatigue, and pain symptoms, delivered remotely to individual youth with lupus by a trained interventionist.
Natoshia R. Cunningham +29 more
wiley +1 more source

